| Primary Identifier | MGI:1351641 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 27419 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables alpha-N-acetylglucosaminidase activity. Involved in heparan sulfate proteoglycan catabolic process. Acts upstream of or within several processes, including circulatory system development; nervous system development; and proteolysis. Is active in lysosomal lumen. Used to study mucopolysaccharidosis III; mucopolysaccharidosis type IIIB; and otitis media. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2V; mucopolysaccharidosis III; and mucopolysaccharidosis type IIIB. Orthologous to human NAGLU (N-acetyl-alpha-glucosaminidase). PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced open field activity, massive accumulation of heparan sulfate in kidney and liver, elevated gangliosides in brain, and presence of vacuoles in macrophages, epithelial cells, and neurons. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
